Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CLINGEN Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. 25771438

2017

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker GENOMICS_ENGLAND Neuroimaging Changes in Menkes Disease, Part 2. 28495940

2017

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism. 26199316

2015

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Menkes disease (MD), an X-linked recessive disorder of copper metabolism caused by mutations in the copper-transporting ATP7A gene, results in growth failure and severe neurodegeneration in early childhood. 24627433

2014

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter. 25247420

2014

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human ATP7B activity is stimulated by PKCɛ in porcine liver. 25003971

2014

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CLINGEN Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. 25456742

2014

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B. 22130675

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human The essential requirement for copper in early development is dramatically illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by loss-of-function mutations in the gene encoding the copper transporting ATPase ATP7A. 23064757

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker GENOMICS_ENGLAND Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Menkes disease (MD) is a genetic neurodegenerative disorder characterized by copper deficiency due to a defect in ATP7A. 22664332

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation UNIPROT Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. 22992316

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), ATP7B (Wilson's disease), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2. 22455587

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail. 21667063

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human These investigations suggest that prenatally initiated copper replacement is inadequate to correct Menkes disease caused by severe loss-of-function mutations, and that postnatal ATP7A gene addition represents a rational approach in such circumstances. 22695177

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Menkes disease (MD) is a disorder of copper transport caused by ATP7A mutations. 22728746

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster. 22981378

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation UNIPROT To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail. 21667063

2012

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Disturbances in copper metabolism caused by mutations in the ATP7A/Atp7a gene lead to severe metabolic syndromes Menkes disease in humans and the lethal mottled phenotype in mice. 20831904

2011

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B. 21242307

2011

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CLINGEN Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease. 21738351

2011

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker GENOMICS_ENGLAND Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency. 20170900

2010

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human One, ATP7A, is the protein nonfunctional in Menkes disease. 18779302

2008

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CLINGEN An important model of MD is the Mottled mouse, which possesses mutations in Atp7A. 17483305

2007